Q8NE28
PR
Gene name |
STKLD1 (C9orf96, SGK071) |
Protein name |
Serine/threonine kinase-like domain-containing protein STKLD1 |
Names |
Serine/threonine kinase-like domain-containing protein 1, Sugen kinase 071 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:169436 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
174-180 (Activation loop from InterPro)
Target domain |
28-297 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q8NE28
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NE28-F1 | Predicted | AlphaFoldDB |
652 variants for Q8NE28
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782305256 CA200849655 |
2 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782305256 CA200849650 |
2 | L>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs961919074 CA200849664 |
4 | P>L | No |
ClinGen gnomAD |
|
|
rs961919074 CA375698988 |
4 | P>R | No |
gnomAD ClinGen |
|
|
CA375698992 rs1274678136 |
5 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
CA375698991 rs1327407928 |
5 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781802882 CA200849666 |
6 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs782683059 CA200849675 |
7 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375699009 rs1339552371 |
8 | R>C | No |
gnomAD ClinGen |
|
|
rs1588729866 CA375699024 |
10 | R>P | No |
Ensembl ClinGen |
|
|
CA200849689 rs908578685 |
11 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA200849687 rs782513913 |
11 | P>T | No |
ExAC gnomAD ClinGen |
|
|
CA200849696 rs587658612 |
12 | T>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA375699039 rs1252244187 |
13 | Q>R | No |
ClinGen gnomAD |
|
|
rs782186441 CA200849704 |
14 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200849711 rs368251012 |
15 | E>A | No |
Ensembl ClinGen |
|
|
CA200849728 rs368251012 |
15 | E>G | No |
Ensembl ClinGen |
|
|
CA200849748 rs782664459 |
16 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA375699059 rs1398692188 |
17 | G>D | No |
ClinGen gnomAD |
|
|
rs782297329 CA200849770 |
17 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200849769 rs782297329 |
17 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398692188 CA375699060 |
17 | G>V | No |
ClinGen gnomAD |
|
|
rs1348737932 CA375699071 |
19 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
rs1588729956 CA375699069 |
19 | G>R | No |
Ensembl ClinGen |
|
|
rs1372293123 CA375699079 |
20 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1372293123 CA375699077 |
20 | S>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA200849786 rs374824261 |
21 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867324014 CA375699081 |
21 | P>S | No |
ClinGen gnomAD |
|
|
rs867324014 CA200849785 |
21 | P>T | No |
gnomAD ClinGen |
|
|
rs782066000 CA200849802 |
22 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs781917303 CA200849799 |
22 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782806956 CA200849820 |
24 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375699103 rs1272477351 |
25 | M>K | No |
gnomAD ClinGen |
|
|
CA200849829 rs781901830 |
25 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782105661 CA200849834 |
26 | E>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000824715 rs587734057 CA200849835 |
28 | Y>* | No |
1000Genomes ExAC gnomAD ClinGen ClinVar dbSNP |
|
|
CA375699133 rs1245937714 |
29 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1245937714 CA375699132 |
29 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA375699154 rs1304805997 |
30 | V>I | No |
ClinGen gnomAD |
|
|
CA375699165 rs56360106 |
31 | L>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA375699173 rs1239591471 |
32 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146900935 CA200851814 |
33 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1210403849 CA375699200 |
36 | P>L | No |
ClinGen gnomAD |
|
|
CA375699212 rs1258443713 |
38 | A>V | No |
gnomAD ClinGen |
|
| TCGA novel | 39 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241327597 CA375699224 |
40 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs782436894 CA375699220 |
40 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs782436894 CA200851817 |
40 | G>W | No |
ExAC gnomAD ClinGen |
|
|
CA375699242 rs1336091686 |
43 | L>P | No |
ClinGen TOPMed |
|
|
rs139668393 CA200851834 |
45 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384737693 CA375699269 |
47 | E>D | No |
TOPMed ClinGen |
|
|
CA200851866 rs920561704 |
47 | E>K | No |
ClinGen Ensembl |
|
|
rs1434444898 CA375699278 |
48 | M>I | No |
ClinGen gnomAD |
|
|
rs1389515703 CA375699272 |
48 | M>L | No |
ClinGen TOPMed |
|
|
CA375699285 rs1303233039 |
49 | E>D | No |
TOPMed ClinGen |
|
|
CA375699288 rs1425941128 |
50 | T>S | No |
ClinGen TOPMed |
|
|
CA200851868 rs781994146 |
51 | K>E | No |
Ensembl ClinGen |
|
|
rs1359261570 CA375699296 |
51 | K>R | No |
TOPMed ClinGen |
|
|
CA200851870 rs782633783 |
52 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs782250895 CA200851887 |
53 | K>N | No |
ExAC gnomAD ClinGen |
|
|
CA375699314 rs1416099137 |
54 | H>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA200855444 rs782658428 |
59 | V>G | No |
ExAC gnomAD ClinGen |
|
|
rs782381715 CA200855437 |
59 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1296702413 CA375699380 |
60 | E>G | No |
TOPMed ClinGen |
|
|
CA375699391 rs1468427540 |
61 | C>W | No |
ClinGen gnomAD |
|
|
rs1401187771 CA375699389 |
61 | C>Y | No |
TOPMed ClinGen |
|
|
CA375699397 rs1255259837 |
62 | M>I | No |
gnomAD ClinGen |
|
|
rs370628529 CA200855456 |
62 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375699395 rs1467182690 |
62 | M>T | No |
ClinGen TOPMed |
|
|
CA200855466 rs138692358 |
63 | D>E | No |
ESP ExAC TOPMed ClinGen |
|
| TCGA novel | 64 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781922414 CA200855496 |
65 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA200855504 rs1018938231 |
67 | A>D | No |
ClinGen Ensembl |
|
|
COSM1598140 CA200855503 rs782398798 |
67 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs964321536 CA200855505 |
68 | S>G | No |
gnomAD ClinGen |
|
|
rs990281133 CA200855506 |
70 | A>T | No |
Ensembl ClinGen |
|
|
rs782030954 CA375699473 |
73 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457020612 CA375699467 |
73 | E>K | No |
TOPMed ClinGen |
|
|
CA375699516 rs1281084232 |
76 | P>L | No |
ClinGen gnomAD |
|
|
rs782372331 CA200856947 |
76 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA200856951 rs781992947 |
77 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1311187385 CA375699532 |
79 | K>N | No |
gnomAD ClinGen |
|
| TCGA novel | 80 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782359483 CA200856962 |
81 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200856955 COSM3432960 rs375343281 |
81 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 82 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782064279 CA200856976 |
83 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375699569 rs1426921271 |
85 | I>M | No |
ClinGen Ensembl |
|
|
rs781858465 CA200856981 |
86 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA200856991 rs782744859 |
89 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
CA200856997 rs992066701 |
91 | L>V | No |
TOPMed ClinGen |
|
|
rs1379835247 CA375699615 |
92 | F>L | No |
TOPMed ClinGen |
|
|
rs150285987 CA200857000 |
94 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200857018 rs782548825 |
97 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200857015 rs781895173 |
97 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375699652 rs782548825 |
97 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200857021 rs782619978 |
98 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554775228 CA375699655 |
98 | E>A | No |
Ensembl ClinGen |
|
|
CA200858393 rs782448085 |
99 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA200858399 rs782277387 |
102 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1234533133 CA375699730 |
107 | V>M | No |
ClinGen gnomAD |
|
|
CA375699749 rs1276211992 |
109 | E>G | No |
gnomAD ClinGen |
|
|
CA200858401 rs782653587 |
111 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs1331812289 CA375699785 |
114 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 117 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 118 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200858404 rs74722439 |
119 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs143148395 CA200858407 |
120 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1454517724 CA375699837 |
121 | D>G | No |
gnomAD ClinGen |
|
|
CA375699833 rs1294670744 |
121 | D>N | No |
gnomAD ClinGen |
|
|
CA200858409 rs973498188 |
123 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs908480351 CA200858410 |
124 | K>E | No |
ClinGen TOPMed |
|
|
rs782198754 CA200858411 |
124 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA375699858 rs782198754 |
124 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA200858414 rs782423607 |
129 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200858418 rs782040685 |
130 | D>E | No |
ExAC gnomAD ClinGen |
|
|
rs1479900451 CA375699904 |
131 | S>P | No |
TOPMed ClinGen |
|
|
rs1460320070 CA375699915 |
132 | E>D | No |
ClinGen gnomAD |
|
|
rs148243189 CA200859940 |
133 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375699951 rs1369118887 |
134 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 135 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_041371 | 139 | G>D | a glioblastoma multiforme sample; somatic mutation [UniProt] | No | UniProt |
|
CA200859942 rs782462847 |
140 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
CA200859945 rs782175758 |
141 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs782287793 CA200859949 |
143 | D>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200859948 rs782656298 |
143 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA200859958 rs587750666 |
144 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs146272196 CA200859963 |
144 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP NCI-TCGA TOPMed gnomAD |
|
rs782312478 CA200859973 |
146 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200859976 rs781938976 CA375700030 |
147 | Y>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375700032 rs373278619 |
148 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs587689862 CA200859987 |
149 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375700041 rs781987130 |
149 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs587689862 CA200859991 |
149 | H>Y | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs782133790 CA200859998 |
150 | H>N | No |
ExAC gnomAD ClinGen |
|
|
CA200860000 rs376559780 |
152 | D>H | No |
ESP ExAC gnomAD ClinGen |
|
|
CA375700074 rs1369993124 |
154 | I>T | No |
gnomAD ClinGen |
|
|
CA375700082 rs1294915601 |
155 | H>P | No |
gnomAD ClinGen |
|
|
rs781832037 CA200860003 |
155 | H>Q | No |
ExAC ClinGen |
|
|
rs1170332541 CA375700079 |
155 | H>Y | No |
TOPMed ClinGen |
|
|
rs374489407 CA200860842 |
156 | R>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA200860847 rs782392501 |
158 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs1401861157 CA375700113 |
158 | L>H | No |
gnomAD ClinGen |
|
|
rs781949252 CA200860848 |
163 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200860859 rs950562137 |
163 | I>T | No |
Ensembl ClinGen |
|
|
rs781949252 CA200860854 |
163 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1280614285 CA375700167 |
167 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 168 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782698733 CA200860862 |
170 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781928660 CA200860864 |
170 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA200860863 rs782698733 |
170 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200860866 rs782149698 |
171 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
CA375700216 rs1488333134 |
174 | Q>K | No |
gnomAD ClinGen |
|
|
CA200860869 rs782811199 |
175 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782516525 CA200860875 |
177 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 178 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375700261 rs782739788 |
179 | N>K | No |
ExAC gnomAD ClinGen |
|
|
CA375700266 rs1182273807 |
180 | V>A | No |
gnomAD ClinGen |
|
|
rs1325580934 CA375700283 |
183 | T>A | No |
ClinGen TOPMed |
|
|
CA375700292 rs1415731201 |
184 | D>G | No |
ClinGen gnomAD |
|
|
CA200860877 rs1010398243 |
184 | D>Y | No |
ClinGen TOPMed |
|
|
CA200860878 rs781793324 |
186 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA200860880 rs782448197 |
188 | W>R | No |
ExAC gnomAD ClinGen |
|
|
CA375700327 rs1361338687 |
189 | N>D | No |
ClinGen gnomAD |
|
|
rs370999988 COSM1674929 CA200860900 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA200860907 rs374609912 COSM1739576 |
191 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA375700342 rs374609912 |
191 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375700341 rs370999988 |
191 | R>S | No |
ESP ExAC gnomAD ClinGen |
|
|
CA200860908 COSM1155093 rs587672490 |
192 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA375700349 rs1286432447 |
193 | E>K | No |
gnomAD ClinGen |
|
|
CA375700357 rs1564379057 |
194 | E>K | No |
Ensembl ClinGen |
|
|
CA375700387 rs782610906 |
195 | D>A | No |
ExAC gnomAD ClinGen |
|
|
rs782610906 CA200862607 |
195 | D>G | No |
ExAC gnomAD ClinGen |
|
|
rs782221543 CA200860927 |
195 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs782440202 CA200862621 |
196 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1554776375 CA375700400 |
197 | F>C | No |
gnomAD ClinGen |
|
| TCGA novel | 197 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782669062 CA200862637 COSM1598139 |
198 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA200862639 rs368293299 COSM1674931 |
198 | R>H | lung large_intestine [Cosmic] | No |
ExAC TOPMed ClinGen cosmic curated |
|
rs368293299 CA200862641 |
198 | R>P | No |
ExAC TOPMed ClinGen |
|
|
CA375700411 rs1221653652 |
199 | K>R | No |
TOPMed ClinGen |
|
| TCGA novel | 199 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782160965 CA200862653 |
202 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554776378 CA375700443 |
204 | P>S | No |
ClinGen gnomAD |
|
|
CA200862662 rs782313438 |
205 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554776383 CA375700456 |
206 | A>T | No |
gnomAD ClinGen |
|
|
CA200862669 rs782145355 |
207 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA200862672 rs372003025 |
208 | N>D | No |
ClinGen gnomAD |
|
|
rs782418469 CA375700469 |
208 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200862675 rs782418469 |
208 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200862680 rs998126315 |
210 | S>P | No |
ClinGen Ensembl |
|
|
rs201089468 CA200862682 |
211 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1554776386 CA375700494 |
212 | S>G | No |
gnomAD ClinGen |
|
|
rs1554776392 CA375700509 |
214 | K>Q | No |
ClinGen gnomAD |
|
|
rs1554776395 CA375700521 |
215 | S>* | No |
ClinGen gnomAD |
|
|
CA375700518 rs1554776393 |
215 | S>P | No |
ClinGen gnomAD |
|
|
CA200862689 rs782734023 |
217 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782711387 CA200862692 |
218 | W>* | No |
ExAC gnomAD ClinGen |
|
|
rs781845197 CA200862690 |
218 | W>G | No |
ExAC gnomAD ClinGen |
|
|
rs782047601 CA200862691 |
218 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA200862696 rs781880285 |
219 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA200862695 rs781880285 |
219 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs45567636 CA200862700 |
220 | L>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs45567636 CA200862704 |
220 | L>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs782461182 CA375700557 |
222 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs782461182 CA200862706 |
222 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA200862708 rs782570950 |
223 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1588749248 CA375700564 |
223 | I>V | No |
ClinGen Ensembl |
|
|
CA200862713 rs782201875 |
224 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA200862729 rs782405640 |
227 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141966849 CA200862755 |
229 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA200862780 rs1031983831 |
230 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs867234471 CA200862799 |
231 | S>F | No |
Ensembl ClinGen |
|
|
rs781956002 CA200862804 |
233 | M>L | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 234 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 235 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369287196 CA200863549 |
235 | G>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs377104645 CA200863545 |
235 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs377104645 CA200863533 |
235 | G>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs782708166 CA200863554 |
236 | T>R | No |
ExAC gnomAD ClinGen |
|
|
CA200863565 rs587713716 |
242 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA200863561 rs587713716 |
242 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs749647813 CA200863556 |
242 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200863591 rs199901953 |
246 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
COSM1674932 CA200863597 rs782474036 |
246 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1429607448 CA375700730 |
247 | Q>* | No |
ClinGen TOPMed |
|
|
rs1264374566 CA375700738 |
248 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1554776586 CA375700762 |
251 | S>N | No |
ClinGen gnomAD |
|
|
rs782460108 CA200863604 |
255 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781798256 CA200863603 |
255 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1340179674 CA375700809 |
258 | T>I | No |
TOPMed ClinGen |
|
|
rs782286254 CA200863606 |
259 | M>V | No |
ExAC gnomAD ClinGen |
|
|
rs1326949403 CA375700856 |
264 | I>M | No |
ClinGen TOPMed |
|
|
rs1554776601 CA375700853 |
264 | I>N | No |
ClinGen gnomAD |
|
|
rs782647523 CA200863612 |
265 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375700871 rs587748084 COSM2149677 |
267 | V>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
1000Genomes ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA200863636 rs587748084 |
267 | V>M | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1007951338 CA200863639 |
271 | R>S | No |
ClinGen gnomAD |
|
|
rs768827116 CA375700904 |
272 | N>H | No |
gnomAD ClinGen |
|
|
CA375700907 rs1313147409 |
272 | N>I | No |
ClinGen TOPMed |
|
|
rs768827116 CA200863641 |
272 | N>Y | No |
gnomAD ClinGen |
|
|
CA200863648 rs782577965 |
274 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1416211244 CA375700932 |
276 | L>F | No |
ClinGen TOPMed |
|
|
rs370235211 CA200863651 |
278 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554776607 CA375700946 |
278 | L>P | No |
gnomAD ClinGen |
|
|
CA375700954 rs1564381698 |
279 | Q>H | No |
ClinGen Ensembl |
|
|
CA200863664 rs374474896 |
281 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA200863661 rs374474896 |
281 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA200863673 rs781970225 |
282 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554776615 CA375700971 |
282 | P>S | No |
ClinGen gnomAD |
|
|
CA200863678 rs372995558 |
283 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA375700981 rs1475099272 |
284 | D>Y | No |
TOPMed ClinGen |
|
|
CA200863691 rs201564402 |
285 | R>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs144537926 CA200863694 |
285 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200863696 rs781865830 |
286 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200863697 rs781865830 |
286 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1564381732 CA375700991 |
286 | I>V | No |
Ensembl ClinGen |
|
|
rs782470218 CA200863698 |
287 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1554776634 CA375701006 |
288 | I>M | No |
ClinGen gnomAD |
|
|
rs782616875 CA200863699 |
289 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs367622176 CA200864427 |
290 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 290 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200864420 rs782497386 |
290 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs782502970 CA200864429 |
291 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200864430 rs201633856 |
292 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA375701054 rs1405581468 |
293 | H>P | No |
TOPMed ClinGen |
|
|
CA200864435 rs782717621 |
295 | T>S | No |
ExAC TOPMed ClinGen |
|
|
CA375701071 rs1239346594 |
296 | F>L | No |
TOPMed gnomAD ClinGen |
|
|
rs782239478 CA200864439 |
297 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs782381281 CA200864441 |
298 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782222571 CA200864443 |
302 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782305389 CA200864444 |
304 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA375701129 rs782305389 |
304 | S>W | No |
ExAC gnomAD ClinGen |
|
|
rs200614927 CA200864453 |
305 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375701136 rs1222668679 |
305 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs150005537 CA200864455 |
306 | V>I | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs781925122 CA200864475 |
307 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
rs868816912 CA200864477 |
309 | T>A | No |
ClinGen Ensembl |
|
|
rs145374164 CA200864483 |
311 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200864485 rs1039394760 |
312 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA375701176 rs1368590258 |
312 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs1554776854 CA375701180 |
313 | Q>E | No |
gnomAD ClinGen |
|
|
rs113183866 CA200864488 |
313 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375701189 rs901747111 |
314 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA375701190 rs901747111 |
314 | M>R | No |
TOPMed gnomAD ClinGen |
|
|
rs901747111 CA200864493 |
314 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
TCGA novel rs1588751873 CA375701194 |
315 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs781901017 CA200864498 |
316 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA375701208 rs377178189 |
317 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377178189 CA200864501 |
317 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782557470 CA200864528 |
318 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs782192390 CA200864536 |
320 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200864540 rs201437676 |
321 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375701237 rs1588751922 |
322 | M>T | No |
ClinGen Ensembl |
|
|
CA200864544 rs782266882 |
322 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1554776862 CA375701246 |
323 | L>P | No |
ClinGen Ensembl |
|
|
CA375701243 rs1489642029 |
323 | L>V | No |
TOPMed ClinGen |
|
|
CA375701296 rs782347583 |
328 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs782347583 CA200864553 |
328 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA375701319 rs1554776867 |
330 | S>G | No |
gnomAD ClinGen |
|
|
CA375701328 rs1554776868 |
330 | S>R | No |
gnomAD ClinGen |
|
|
rs1007504268 CA200864570 |
330 | S>T | No |
ClinGen Ensembl |
|
|
rs782734261 CA200864582 |
332 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs782048842 CA375701401 |
334 | V>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782048842 CA200864924 |
334 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200864940 rs781883892 |
335 | M>K | No |
ExAC gnomAD ClinGen |
|
|
CA200864929 rs368025940 |
335 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144772739 CA200864943 |
336 | Q>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs144772739 CA200864944 |
336 | Q>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 337 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554776991 CA375701432 |
338 | F>L | No |
ClinGen gnomAD |
|
|
rs782770338 CA200864946 |
340 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs1554776993 CA375701448 |
341 | W>* | No |
gnomAD ClinGen |
|
|
CA200864950 rs147959001 |
343 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 345 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587758933 CA200864962 |
349 | M>T | No |
ClinGen 1000Genomes |
|
|
rs965784980 CA200864966 COSM3847968 |
350 | K>N | breast [Cosmic] | No |
gnomAD ClinGen cosmic curated |
| TCGA novel | 350 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1030428150 CA200864968 |
351 | R>K | No |
ClinGen TOPMed |
|
|
CA375701532 rs1554777001 |
354 | K>Q | No |
gnomAD ClinGen |
|
|
CA200864983 rs201001539 |
356 | P>S | No |
gnomAD ClinGen |
|
|
rs1412164966 CA375701560 |
358 | D>H | No |
ClinGen TOPMed |
|
|
CA375701562 rs1412164966 |
358 | D>N | No |
TOPMed ClinGen |
|
|
CA200865000 rs782696656 |
359 | Q>E | No |
ExAC gnomAD ClinGen |
|
|
rs1163176499 CA375701573 |
359 | Q>H | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 361 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782326103 CA200866277 |
361 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs782248502 CA200865003 |
361 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA200866280 rs782025644 |
362 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA200866282 rs372547559 |
363 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782172535 CA200866281 |
363 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs1554777401 TCGA novel CA375701614 |
364 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs1554777399 CA375701608 |
364 | W>R | No |
ClinGen gnomAD |
|
|
CA200866285 rs373297034 |
365 | P>A | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
CA200866291 rs373297034 |
365 | P>S | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
CA200866293 rs1012421387 |
366 | P>A | No |
TOPMed ClinGen |
|
|
rs1280637370 CA375701623 |
366 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375701642 rs1554777412 |
369 | V>A | No |
gnomAD ClinGen |
|
|
CA375701640 rs1554777411 |
369 | V>M | No |
gnomAD ClinGen |
|
| TCGA novel | 370 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375701652 rs1554777413 |
371 | V>M | No |
gnomAD ClinGen |
|
|
CA375701663 rs1554777419 |
372 | V>A | No |
ClinGen gnomAD |
|
|
CA375701659 rs1554777416 |
372 | V>L | No |
gnomAD ClinGen |
|
|
CA200866305 rs782462153 |
374 | T>M | No |
ExAC gnomAD ClinGen |
|
|
CA200866310 rs781905200 |
376 | M>I | No |
ExAC gnomAD ClinGen |
|
|
rs782782776 CA200866308 |
376 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1447753305 CA375701682 |
376 | M>V | No |
TOPMed ClinGen |
|
|
CA200866313 rs782502221 |
377 | E>A | No |
ExAC gnomAD ClinGen |
|
|
rs782652495 CA375701705 |
379 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs782652495 CA200866320 |
379 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs782232968 CA200866333 |
380 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs782597499 CA200866336 |
384 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782597499 CA375701735 |
384 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200866338 rs782277807 |
386 | Q>* | No |
ExAC gnomAD ClinGen |
|
|
CA200866340 rs782439516 |
388 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375701762 rs1554777437 |
388 | C>S | No |
gnomAD ClinGen |
|
|
CA375701766 rs1554777440 |
389 | A>P | No |
gnomAD ClinGen |
|
|
rs1431184489 CA375701771 |
389 | A>V | No |
TOPMed ClinGen |
|
|
CA200866343 rs781995411 |
390 | C>S | No |
ExAC ClinGen |
|
|
rs782272941 CA200866344 |
391 | S>F | No |
ExAC gnomAD ClinGen |
|
|
rs1554777445 CA375701788 |
392 | L>R | No |
gnomAD ClinGen |
|
|
rs1383001152 CA375701785 |
392 | L>V | No |
ClinGen TOPMed |
|
|
rs1162346686 CA375701790 |
393 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
CA375701808 rs1554777447 |
396 | L>F | No |
gnomAD ClinGen |
|
|
rs373136158 CA200866348 |
397 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201075738 CA200866357 |
398 | G>D | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1482698748 CA375701820 |
398 | G>R | No |
TOPMed ClinGen |
|
|
CA375701850 rs201751407 |
400 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA200866979 rs201751407 |
400 | A>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA200866980 rs201751407 |
400 | A>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1588756351 CA375701860 |
402 | V>G | No |
Ensembl ClinGen |
|
|
CA375701857 rs781815220 |
402 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA200866985 rs781815220 |
402 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1588756352 CA375701865 |
403 | H>P | No |
ClinGen Ensembl |
|
|
rs1554777697 CA375701868 |
403 | H>Q | No |
gnomAD ClinGen |
|
|
rs1272016975 CA375701881 |
405 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA200866999 rs1056627436 |
406 | E>D | No |
ClinGen Ensembl |
|
|
rs782686532 CA200866988 |
406 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs782247289 CA200867003 |
407 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA200867009 rs763668159 |
409 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375701902 rs1554777702 |
409 | A>T | No |
gnomAD ClinGen |
|
|
CA375701909 COSM422465 rs1554777705 |
410 | P>S | Variant assessed as Somatic; 0.0 impact. urinary_tract breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA375701919 rs1554777706 |
411 | C>* | No |
ClinGen gnomAD |
|
|
rs1297475207 CA375701924 |
412 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375701923 rs1297475207 |
412 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA200867011 rs781877634 |
412 | N>Y | No |
ClinGen Ensembl |
|
|
rs782176295 CA200867014 |
414 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA375701949 rs1554777711 |
416 | T>A | No |
gnomAD ClinGen |
|
|
CA200867041 rs782292872 |
417 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA200867044 rs782292872 |
417 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1313464977 CA375701963 |
418 | T>I | No |
TOPMed ClinGen |
|
|
rs1554777722 CA375701988 |
423 | L>I | No |
ClinGen gnomAD |
|
|
CA200867057 rs781926399 |
424 | Q>K | No |
ExAC gnomAD ClinGen |
|
|
rs1306361474 CA375702013 |
426 | H>L | No |
TOPMed ClinGen |
|
|
rs781909747 CA200867066 |
428 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200867068 rs782508745 |
430 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375702045 rs1422508967 |
431 | P>T | No |
TOPMed ClinGen |
|
|
rs150111949 CA200867075 |
432 | L>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs138721622 CA200867077 |
433 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs28418384 CA200867080 |
434 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782576495 CA200867083 |
435 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782576495 CA375702070 |
435 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1554777730 CA375702076 |
436 | V>F | No |
gnomAD ClinGen |
|
|
rs782278720 CA200867093 |
437 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554777731 CA375702081 |
437 | Y>D | No |
gnomAD ClinGen |
|
|
rs150258727 CA200867097 |
438 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA375702100 rs782630938 |
440 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200005667 CA200867112 |
441 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1588756535 CA375702116 |
443 | T>P | No |
ClinGen Ensembl |
|
|
CA200867119 rs781963015 |
446 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781963015 CA375702135 |
446 | Q>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375702137 rs1286549995 |
446 | Q>R | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 447 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375702141 rs1554777741 |
447 | E>K | No |
gnomAD ClinGen |
|
|
CA200867588 rs951614125 |
449 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375702180 CA375702181 rs1554777920 |
450 | S>* | No |
ClinGen gnomAD |
|
|
rs1554777933 CA375702185 |
451 | L>P | No |
gnomAD ClinGen |
|
|
CA200867597 rs782441886 |
452 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1554777939 CA375702191 |
452 | S>L | No |
ClinGen gnomAD |
|
|
CA200867600 rs897418142 |
453 | E>G | No |
TOPMed ClinGen |
|
|
CA200867605 rs782280372 |
454 | E>D | No |
ClinGen ExAC |
|
|
rs782585157 CA200867601 |
454 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1554777945 CA375702200 |
454 | E>K | No |
gnomAD ClinGen |
|
|
rs3124748 CA200867618 |
457 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144696692 CA200867615 |
457 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200867623 rs587671240 |
458 | A>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs587671240 CA375702226 |
458 | A>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA375702225 rs587671240 |
458 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375702235 rs1311815955 |
459 | G>E | No |
ClinGen TOPMed |
|
|
rs1554777964 CA375702250 |
462 | E>G | No |
ClinGen gnomAD |
|
|
CA375702258 rs1327104064 |
463 | H>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA200867630 rs200211240 |
465 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554777971 CA375702298 |
468 | L>P | No |
gnomAD ClinGen |
|
|
CA200867631 rs975150457 |
469 | N>D | No |
ClinGen gnomAD |
|
|
CA200867633 rs375620462 |
469 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200867639 VAR_025611 rs3124747 |
473 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs3124747 CA200867640 |
473 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200867643 rs781817501 |
475 | R>G | No |
ExAC ClinGen |
|
|
rs782094247 CA375702352 |
476 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200867649 rs782692340 |
477 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs782533878 CA375702368 |
479 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782533878 COSM1460803 CA200867654 |
479 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA375702378 rs917050020 |
480 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758939865 CA200867664 |
481 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781859232 CA200867674 |
482 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA200867671 rs1020344437 |
482 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
CA200867676 rs782532262 |
483 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200867679 rs782604739 |
484 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200867713 rs782314382 |
486 | W>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375702411 rs1554777984 |
487 | A>T | No |
ClinGen gnomAD |
|
|
CA375702420 rs1554777986 |
488 | L>H | No |
ClinGen gnomAD |
|
|
rs1235969600 CA375702431 |
490 | L>P | No |
ClinGen TOPMed |
|
|
CA200867717 rs782365414 |
491 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375702437 rs1554777991 |
491 | D>G | No |
ClinGen gnomAD |
|
|
CA200868183 rs140772755 |
492 | G>D | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA200867735 rs905294951 |
492 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs140772755 CA200868186 |
492 | G>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA200868189 rs780131116 |
494 | I>N | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 494 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200868192 rs780131116 |
494 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200868199 rs781920489 |
495 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200868202 rs782812406 |
496 | N>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200868207 rs144836131 |
498 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375702489 rs1554778124 |
498 | A>V | No |
Ensembl ClinGen |
|
|
rs1157704762 CA375702491 |
499 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
rs367825683 CA200868209 |
499 | P>L | No |
ClinGen ESP |
|
|
CA375702492 rs1157704762 |
499 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1554778127 CA375702499 |
500 | L>S | No |
gnomAD ClinGen |
|
| TCGA novel | 500 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782427001 CA200868219 |
501 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs781834078 CA200868217 |
501 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs782586055 CA375702512 |
502 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA200868221 rs782586055 |
502 | K>T | No |
ExAC gnomAD ClinGen |
|
|
rs782558712 CA200868229 |
503 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1554778132 CA375702515 |
503 | V>I | No |
gnomAD ClinGen |
|
|
rs147923253 CA200868234 |
504 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147923253 CA375702524 |
504 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200868239 rs140223723 |
505 | D>H | No |
ClinGen ESP ExAC |
|
|
rs1554778137 CA375702546 |
508 | S>G | No |
ClinGen gnomAD |
|
|
rs1554778138 CA375702549 |
508 | S>N | No |
ClinGen gnomAD |
|
|
rs1554778139 CA375702569 |
511 | L>S | No |
ClinGen gnomAD |
|
|
rs782181410 CA200868248 |
511 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1489529783 CA375702573 |
512 | A>T | No |
ClinGen TOPMed |
|
|
rs35169502 CA200868256 |
513 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200868252 rs35169502 |
513 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376801977 CA200868258 |
515 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354798433 CA375702592 |
515 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA200868259 rs782778743 |
516 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369512252 CA200868262 |
516 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA200868264 rs888810594 |
517 | D>E | No |
ClinGen TOPMed |
|
|
CA375702601 rs1554778151 |
517 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 517 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781800185 CA200868268 |
518 | G>A | No |
ExAC gnomAD ClinGen |
|
|
rs149032524 CA200868265 |
518 | G>R | No |
ESP ExAC gnomAD ClinGen |
|
|
rs781862747 CA200868280 |
520 | M>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200868278 rs146698200 |
520 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1038060021 CA200868274 |
520 | M>V | No |
ClinGen TOPMed |
|
|
CA375702626 rs782524524 |
521 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200868287 rs782524524 |
521 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375702629 rs1554778157 |
521 | A>V | No |
gnomAD ClinGen |
|
|
rs1554778159 CA375702640 |
523 | A>T | No |
gnomAD ClinGen |
|
|
CA375702645 rs1554778161 |
524 | S>R | No |
gnomAD ClinGen |
|
|
rs782593668 CA200868296 |
524 | S>R | No |
ExAC gnomAD ClinGen |
|
|
CA375702654 rs1261144093 |
525 | C>G | No |
ClinGen TOPMed |
|
|
rs1261144093 CA375702653 |
525 | C>R | No |
TOPMed ClinGen |
|
|
CA375702661 rs782275526 |
526 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200868308 rs782376433 |
526 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA375702663 rs782376433 |
526 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200868305 rs782275526 |
526 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1344786280 CA375702669 |
527 | V>G | No |
TOPMed ClinGen |
|
|
CA375702664 rs1554778164 |
527 | V>I | No |
gnomAD ClinGen |
|
|
rs782640154 CA200868310 |
528 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200868313 rs35283679 |
529 | W>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1305187486 CA375702689 |
530 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs782358062 CA200868315 |
532 | S>F | No |
ClinGen ExAC gnomAD |
|
|
COSM4163486 CA200868325 rs33919837 |
535 | G>C | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375702710 rs33919837 |
535 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA200868402 rs150166055 |
538 | K>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA200868425 rs781836684 |
539 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1004752696 CA200868417 |
539 | E>G | No |
ClinGen Ensembl |
|
|
CA200868413 rs782125664 |
539 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA200868415 rs782125664 |
539 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA200868429 rs1014804507 |
541 | Q>* | No |
ClinGen Ensembl |
|
|
CA200868435 rs370249535 |
544 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA200868440 rs201799382 |
545 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA200868437 rs782700338 |
545 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200868454 rs1037334040 |
546 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
CA200868456 rs782627803 |
547 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782270973 CA200868459 |
547 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200868463 rs782326817 |
552 | S>T | No |
ClinGen ExAC TOPMed |
|
|
rs200455830 CA200868466 |
554 | R>G | No |
ExAC ClinGen |
|
|
rs201434985 CA200868471 |
554 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200455830 CA200868469 |
554 | R>W | No |
ClinGen ExAC |
|
|
rs1554778202 CA375702854 |
556 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 559 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782093937 CA375702882 |
560 | A>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200868484 rs782093937 |
560 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200868488 rs925942455 |
562 | L>P | No |
ClinGen TOPMed |
|
|
CA375702904 rs1356599457 |
564 | N>S | No |
ClinGen TOPMed |
|
|
rs781849672 CA200868509 |
567 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782136346 CA200868501 |
567 | Y>H | No |
ExAC ClinGen |
|
|
rs782805959 CA200868504 |
567 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375702928 rs17150554 |
568 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_025612 CA200868518 rs17150554 |
568 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs201085864 CA200868513 |
568 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554778209 CA375702943 |
571 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1391683872 CA375702957 |
573 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA200868526 rs149564377 |
574 | V>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA375702963 rs149564377 |
574 | V>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1588759216 CA375702977 |
576 | V>G | No |
ClinGen Ensembl |
|
|
CA375702978 rs1554778214 |
577 | S>T | No |
gnomAD ClinGen |
|
|
CA375702986 rs1554778216 |
578 | E>Q | No |
gnomAD ClinGen |
|
|
rs1263362099 CA375703005 |
579 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA200868902 rs782452421 |
580 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782656316 CA200868904 |
580 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782362080 CA200868908 |
581 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1554778382 CA375703040 |
585 | V>M | No |
ClinGen gnomAD |
|
| rs782141470 | 589 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554778385 CA375703081 |
590 | G>D | No |
ClinGen gnomAD |
|
|
rs587697599 CA200868912 |
591 | G>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs139162345 CA200868914 |
592 | S>C | No |
ESP ClinGen |
|
|
CA375703090 rs1376140066 |
592 | S>T | No |
ClinGen TOPMed |
|
|
CA200868918 rs782365487 |
594 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1554778396 CA375703106 |
595 | S>G | No |
ClinGen gnomAD |
|
|
CA375703115 rs1588760540 |
596 | L>I | No |
Ensembl ClinGen |
|
|
CA200868920 rs781928239 |
597 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs781928239 CA200868923 |
597 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs1588760564 CA375703128 |
598 | K>R | No |
Ensembl ClinGen |
|
|
CA200868927 rs782409044 |
599 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs367640120 CA200868932 |
600 | T>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs782117141 CA200868938 |
601 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
CA200868935 rs971755058 |
601 | Y>C | No |
ClinGen Ensembl |
|
|
CA200868940 rs782772440 |
602 | Q>E | No |
ExAC gnomAD ClinGen |
|
|
CA375703156 rs1554778405 |
602 | Q>H | No |
ClinGen gnomAD |
|
|
CA375703159 rs1185875257 |
603 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA375703158 rs1185875257 |
603 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA200868947 rs587654035 |
606 | D>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs781836136 CA200868944 |
606 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA200868952 rs147520012 |
607 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs587715256 CA200868955 |
608 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375703209 rs1588760626 |
610 | V>G | No |
ClinGen Ensembl |
|
|
CA375703213 rs1564386918 |
611 | V>A | No |
ClinGen Ensembl |
|
|
CA375703212 rs1564386918 |
611 | V>G | No |
ClinGen Ensembl |
|
|
rs140076945 CA200868959 |
611 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200868961 rs782385894 |
612 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA200868968 rs587771083 |
613 | N>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1237767356 CA375703226 |
613 | N>S | No |
TOPMed ClinGen |
|
|
rs1293654122 CA375703224 |
613 | N>Y | No |
ClinGen TOPMed |
|
|
rs201750495 CA200868979 |
614 | V>A | No |
ClinGen Ensembl |
|
|
CA200868977 rs374471690 |
614 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA200868987 rs35683622 |
615 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA375703243 rs1321765288 |
616 | M>R | No |
TOPMed ClinGen |
|
|
CA375703250 rs1554778422 |
617 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 618 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375703255 rs1554778423 |
618 | L>R | No |
gnomAD ClinGen |
|
|
rs1554778424 CA375703261 |
619 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1554778427 CA375703272 |
621 | L>V | No |
ClinGen gnomAD |
|
|
CA200868998 rs782189117 |
622 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA375703291 rs1564386980 |
624 | Y>C | No |
Ensembl ClinGen |
|
|
rs782337788 CA200868999 |
625 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 627 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375703325 rs1588761353 |
627 | I>N | No |
Ensembl ClinGen |
|
|
rs143000003 CA200869183 |
629 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs143000003 CA375703338 |
629 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200869187 rs587681073 |
631 | L>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs782192214 CA200869186 |
631 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1554778496 CA375703351 |
632 | V>L | No |
gnomAD ClinGen |
|
|
rs782035273 CA200869190 |
633 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200869193 rs151334521 |
634 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200869199 rs782384139 |
635 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1554778508 CA375703380 |
636 | M>I | No |
ClinGen gnomAD |
|
|
rs139946489 CA200869201 |
636 | M>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1554778511 CA375703388 |
637 | K>N | No |
gnomAD ClinGen |
|
|
rs1030907639 CA200869204 |
637 | K>R | No |
Ensembl ClinGen |
|
|
rs587632996 CA200869206 |
640 | L>P | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA375703414 rs1480360067 |
642 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA200869213 rs587700188 |
646 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs587700188 CA200869212 |
646 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782810949 CA200869222 |
646 | R>H | No |
ExAC gnomAD ClinGen |
|
|
rs1564387328 CA375703459 |
648 | T>N | No |
ClinGen Ensembl |
|
|
CA375703456 rs1588761508 |
648 | T>P | No |
ClinGen Ensembl |
|
|
rs368909489 CA200869226 |
649 | S>A | No |
ESP ExAC ClinGen |
|
|
rs1554778519 CA375703466 |
649 | S>F | No |
ClinGen gnomAD |
|
|
rs1206909442 CA375703483 |
652 | V>E | No |
TOPMed gnomAD ClinGen |
|
|
rs1554778523 CA375703490 |
653 | S>N | No |
gnomAD ClinGen |
|
| rs868276358 | 653 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200869232 rs1017371985 |
654 | D>N | No |
ClinGen Ensembl |
|
|
rs782444056 CA200869233 |
655 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA375703513 rs1320207713 |
656 | S>N | No |
TOPMed ClinGen |
|
|
rs782288635 CA200869238 |
657 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA375703532 rs1564387370 |
659 | S>N | No |
ClinGen Ensembl |
|
|
rs1012024661 CA200869242 |
659 | S>R | No |
ClinGen TOPMed |
|
|
rs1564387375 CA375703550 |
662 | G>C | No |
ClinGen Ensembl |
|
|
CA200869246 rs782513023 |
663 | L>R | No |
ExAC gnomAD ClinGen |
|
|
CA375703562 rs1554778529 |
664 | P>A | No |
ClinGen gnomAD |
|
|
rs782208101 CA200869254 |
666 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs1554778532 CA375703578 |
667 | G>* | No |
ClinGen gnomAD |
|
|
CA375703599 rs1554778534 |
670 | Q>K | No |
gnomAD ClinGen |
|
|
CA200869267 rs202068817 |
672 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA200869268 rs202068817 |
672 | G>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1433836760 CA375703620 |
673 | C>S | No |
TOPMed ClinGen |
|
|
rs782198462 CA200869277 |
675 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA375703641 CA375703642 rs1554778543 |
677 | G>R | No |
gnomAD ClinGen |
|
|
CA375703647 rs1554778545 |
678 | G>R | No |
gnomAD ClinGen |
|
|
CA375703651 rs1554778547 |
678 | G>V | No |
ClinGen gnomAD |
|
|
rs41302673 CA200869289 |
679 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs927747812 CA200869295 |
680 | E>Q | No |
Ensembl ClinGen |
|
|
CA375703665 rs1554778552 |
681 | E>E | No |
gnomAD ClinGen |
|
|
CA375703666 rs1554778552 |
681 | E>Q | No |
gnomAD ClinGen |
No associated diseases with Q8NE28
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P51957 | NEK4 | Serine/threonine-protein kinase Nek4 | Homo sapiens (Human) | PR |
| Q6P3R8 | NEK5 | Serine/threonine-protein kinase Nek5 | Homo sapiens (Human) | PR |
| Q8K1R7 | Nek9 | Serine/threonine-protein kinase Nek9 | Mus musculus (Mouse) | SS |
| Q7TSC3 | Nek5 | Serine/threonine-protein kinase Nek5 | Mus musculus (Mouse) | PR |
| Q80YS9 | Stkld1 | Serine/threonine kinase-like domain-containing protein STKLD1 | Mus musculus (Mouse) | PR |
| Q10GB1 | NEK1 | Serine/threonine-protein kinase Nek1 | Oryza sativa subsp japonica (Rice) | PR |
| Q6ZEZ5 | NEK3 | Serine/threonine-protein kinase Nek3 | Oryza sativa subsp japonica (Rice) | PR |
| Q9SLI2 | NEK1 | Serine/threonine-protein kinase Nek1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LT35 | NEK6 | Serine/threonine-protein kinase Nek6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RXT4 | NEK4 | Serine/threonine-protein kinase Nek4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLGPGSNRRR | PTQGERGPGS | PGEPMEKYQV | LYQLNPGALG | VNLVVEEMET | KVKHVIKQVE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CMDDHYASQA | LEELMPLLKL | RHAHISVYQE | LFITWNGEIS | SLYLCLVMEF | NELSFQEVIE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DKRKAKKIID | SEWMQNVLGQ | VLDALEYLHH | LDIIHRNLKP | SNIILISSDH | CKLQDLSSNV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LMTDKAKWNI | RAEEDPFRKS | WMAPEALNFS | FSQKSDIWSL | GCIILDMTSC | SFMDGTEAMH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LRKSLRQSPG | SLKAVLKTME | EKQIPDVETF | RNLLPLMLQI | DPSDRITIKD | VVHITFLRGS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FKSSCVSLTL | HRQMVPASIT | DMLLEGNVAS | ILEVMQKFSG | WPEVQLRAMK | RLLKMPADQL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLPWPPELVE | VVVTTMELHD | RVLDVQLCAC | SLLLHLLGQA | LVHHPEAKAP | CNQAITSTLL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SALQSHPEEE | PLLVMVYSLL | AITTTQESES | LSEELQNAGL | LEHILEHLNS | SLESRDVCAS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GLGLLWALLL | DGIIVNKAPL | EKVPDLISQV | LATYPADGEM | AEASCGVFWL | LSLLGCIKEQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QFEQVVALLL | QSIRLCQDRA | LLVNNAYRGL | ASLVKVSELA | AFKVVVQEEG | GSGLSLIKET |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YQLHRDDPEV | VENVGMLLVH | LASYEEILPE | LVSSSMKALL | QEIKERFTSS | LVSDSSAFSK |
| 670 | |||||
| PGLPPGGSPQ | LGCTTSGGLE |